Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva

INTRODUÇÃO: A Síndrome de Rubinstein-Taybi foi descrita pela primeira vez em 1963, após a observação dos traços físicos semelhantes apresentados por sete crianças com retardo mental, baixa estatura, polegares grandes e largos e anomalias faciais. Mais tarde, novas publicações definiram outras características dessa síndrome, a qual incide em 1 a cada 300.000 nascidos e apresenta etiologia incerta. Sintomas otorrinolaringológicos e fonoaudiológicos são freqüentes, daí a importância de melhor conhecimento dessa síndrome por esses especialistas. RELATO DE CASO: Apresentamos as principais manifestações clínicas, traços físicos e as avaliações auditivas de cinco crianças portadoras da Síndrome de Rubinstein-Taybi, em atendimento na Faculdade de Medicina de Botucatu (UNESP). Para as avaliações auditivas foram realizados exames de audiometria tonal, imitanciometria e potenciais evocados do tronco encefálico (BERA). As principais características observadas foram: retardo mental, baixa estatura, polegares largos, pirâmide nasal alta, palato ogival, má oclusão dentária, atraso no desenvolvimento neuropsicomotor e de linguagem. DISCUSSÃO: Os traços físicos característicos dos portadores dessa síndrome facilitam o diagnóstico, e muitos deles são responsáveis por sintomas otorrinolaringológicos e fonoaudiológicos, como infeções de vias aéreas superiores, obstrução nasal, otites médias, hipertrofia adenoamigdaliana, surdez condutiva, hipotonia perioral e disfagia. O importante comprometimento cognitivo é responsável pelo atraso no desenvolvimento da linguagem e pelo baixo rendimento escolar. CONCLUSÕES: Frente às várias manifestações otorrinolaringológicas e fonoaudiológicas apresentadas pelas crianças portadoras da Síndrome de Rubinstein-Taybi, torna-se necessário que esses especialistas conheçam melhor essa síndrome para que possam fazer o diagnóstico precoce e orientar o tratamento dessas crianças.

Escolha de parceiros afetivos: influência das seqüelas de fissura labiopalatal

Adolescentes, fissurados ou não, se vêem diante de sensações novas perante si mesmos e em relação ao sexo oposto durante a busca de parceiros afetivos, estabelecendo critérios para essa seleção. Este estudo objetivou verificar critérios que adolescentes fissurados estabelecem para selecionar parceiros afetivos e se esses diferem dos utilizados pelos seus pares, não fissurados. Participaram, respondendo a um questionário, 74 adolescentes, de 14 a 21 anos, de ambos os sexos, divididos em dois Grupos: Fissurados (GF) e Não Fissurados (GNF). Os resultados sugerem que não há diferença significativa entre os grupos considerando as características que valorizam em si e no outro para a escolha do parceiro afetivo. Verificou-se que o GNF valorizou mais o rosto do que o GF, apresentando correlação estatisticamente significativa. Tais resultados permitiram concluir que a fissura interfere na visão de si mesmo ou do outro na busca por parceiros afetivos.

Fissuras lábio-palatais: estudo caso-controle

Realizou-se um estudo caso-controle com o propósito de se detectar possíveis fatores de risco para o aparecimento de fissuras orais. Foram objeto de análise: local de moradia da mãe nos quatro primeiros meses de gestação, poluição, aplicação de pesticida/herbicida na lavoura, doenças dos pais, doenças da mãe nos quatro primeiros meses de gestação, ingestão medicamentosa nesse período, hereditariedade, tabagismo, consumo de bebida alcoólica e exposição a raio-X. Foram aplicados formulários às mães referentes aos 450 casos, sendo 354 portadores de fissuras labiais ou lábio-palatais e 96 de fissuras palatinas, e às mães referentes aos 450 controles. Empregou-se análise multivariada e as variáveis hereditariedade (RR=4,96), epilepsia na mãe (RR=2,39) e ingestão de anti-inflamatório (RR=2,59) foram consideradas fatores de risco para fissuras labiais ou lábio-palatais. As variáveis hereditariedade (RR=2,82) e poluição (RR=2,58) foram consideradas fatores de risco para fissuras palatinas.

Prevalência de fissuras orais de 1975 a 1994

OBJETIVO: Estimar a prevalência de fissuras orais no Brasil, segundo etiologia e região geográfica. MÉTODOS: Foram levantados os registros de casos de fissura oral entre recém-nascidos no período de 1975 a 1994. As fontes de dados foram o Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo, o Ministério da Saúde -- Departamento de Informática do Sistema Único de Saúde (Datasus) e a Fundação Instituto Brasileiro de Geografia e Estatística. RESULTADOS/CONCLUSÕES: Foram encontrados 16.853 casos novos de fissura oral, estimando-se a prevalência de 0,19 por mil nascidos vivos, com tendência ascendente para os qüinqüênios do período. As regiões Centro-Oeste, Sudeste e Sul apresentaram as maiores taxas. A fissura labial ou lábio-palatina foi mais freqüente (74%) do que a fissura palatina isolada (26%).

A influência da redução do espaço nasofaringeano na morfologia facial de pré-adolescentes

A redução do espaço nasofaringeano devido à hipertrofia adenoideana leva a adaptações posturais da cabeça, mandíbula, língua e lábios, podendo causar alterações no padrão esquelético facial. Foram coletadas 98 teleradiografias em norma lateral de pré-adolescentes na faixa etária de 7 a 10 anos na Clínica de Ortodontia da F.O. Araraquara, as quais foram selecionadas levando-se em consideração a dimensão da imagem do espaço nasofaringeano (ENF) (correspondente à menor distância do dorso do palato mole à parede faringeana posterior). As radiografias foram divididas em 3 grupos: Grupo I (estreito), ENF entre 1,7 e 5,1mm; Grupo II (médio), ENF entre 5,2 e 7,6mm; Grupo III (amplo), ENF entre 7,7 e 12,9mm. Utilizamos duas medidas angulares e seis medidas lineares para caracterizar a morfologia facial. As médias e o desvio padrão de cada medida efetuada foram obtidas, e por meio de teste de análise de variância (ANOVA), verificou-se diferença não significativa entre os grupos para as variáveis: ANperp, p=0,07; PgNperp, p=0,058, comprimento mandibular, p=0,15, comprimento maxilar, p=0,06, diferença maxilomandibular, p=0,98, eixo facial, p=0,96, altura facial inferior, p=0,84 e significativa na variável plano mandibular (p<0,01). Portanto, a redução do espaço nasofaringeano está associada a alterações no plano mandibular, que apresentou valores maiores com a diminuição do espaço nasofaringeano.

Articulação compensatória associada à fissura de palato ou disfunção velofaríngea: revisão de literatura

TEMA: articulação compensatória na fissura palatina. OBJETIVO: contribuir para o aprofundamento de informações sobre os tipos de articulação compensatória descritos na literatura e, ainda, discutir as implicações e contribuições da avaliação clínica e instrumental na identificação destas produções. CONCLUSÃO: as articulações compensatórias merecem a atenção de clínicos e pesquisadores que atuam no Brasil, já que estas alterações são encontradas com grande freqüência em crianças e adultos com fissura palatina ou disfunção velofaríngea, o que compromete a qualidade de vida destes sujeitos. Os fonoaudiólogos devem aprofundar seus conhecimentos sobre os tipos de articulação compensatória e os procedimentos de avaliação, bem como devem estabelecer programas preventivos que favoreçam a aquisição fonológica sem o desenvolvimento dessas compensações.

Muscular, functional and orthodontic changes in pre school children with enlarged adenoids and tonsils

Introduction: Hypertrophy of the adenoids and palatine tonsils is the second most frequent cause of upper respiratory obstruction and, consequently, mouth breathing in children. Prolonged mouth breathing leads to muscular and postural alterations which, in turn, cause dentosketetal changes. Objective: the aim of this study was to determine muscular, functional and dentoskeletal alterations in children aged 3-6 years. Materials and methods: Seventy-three children, including 44 with tonsil hypertrophy and 29 controls, were submitted to otorhinolaryngologic, speech pathologic and orthodontic assessment. Results: Otorhinolaryngologic evaluation revealed a higher incidence of nasal obstruction, snoring, mouth breathing, apneas, nocturnal hypersalivation, itchy nose, repeated tonsillitis and bruxism in children with tonsils hypertrophy. Speech pathologic assessment showed a higher incidence of open lip and lower tongue position, and of hypotonia of the upper and lower lips, tongue and buccinator muscle in these children, accompanied by important impairment in mastication and deglutition. Orthodontic evaluation demonstrated a higher incidence of lower mandible position in relation to the cranial base, a reduction in lower posterior facial height, transverse atresia of the palate, and a dolicofacial pattern. Conclusion: Postural and functional alterations anticipate dentoskeletal changes, except for the facial pattern. Postural alterations and the skeletal pattern seem to play an important role in infant dentofacial growth. (C) 2003 Elsevier B.V. Ireland Ltd. All rights reserved.

Light and scanning electron microscopic study of the palatine mucosa of nine-banded armadillo (Dasypus novemcinctus)

The three-dimensional structure of the lamina propria of the hard and soft palatine mucosa of the nine-banded armadillo was observed by scanning electron microscopy. Sodium hydroxide cell maceration method was applied to demonstrate the architecture of the connective tissue papillae. The palatine mucosa of the armadillo had a triangular shape and measured appr. 6.5 cm length. The hard palate showed 9 transverse palatine plicae while the soft palate was smooth. In the 10% NaOH treated specimens, the lamina propria of the hard palatine mucosa showed numerous connective tissue papillae with a general finger-like shape. These structures were composed by a meshwork of collagen fibers arranged in several directions. on the other hand, the connective tissue papillae of the soft palate mucosa were scattered and small. Numerous openings of glandular ducts with circular or elliptical shape were located in the interplicae area and in the soft palate.

Immediate and sustained changes in tongue movement with an experimental palatal Fistula: A case study

Objective: To determine the immediate and longer-term effect(s) on tongue movement following the placement of an experimental opening through a palatal obturator (replicate of subject's prosthesis) worn by an adult male with an unrepaired cleft of the hard and soft palate.Methods: Tongue movements associated with an anterior experimental opening of 20 mm(2) were examined under three conditions: a control condition in which the subject wore the experimental obturator completely occluded, a condition immediately after drilling the experimental openings through the obturator, and a condition after 5 days in which the subject wore the experimental obturator with the experimental opening. An Electromagnetic Articulograph was used for obtaining tongue movements during speech.Results: the findings partly revealed that the immediate introduction of a perturbation to the speech system (experimental fistula) had a temporary effect on tongue movement. After sustained perturbation (for 5 days), the system normalized (going back toward control condition's behavior). Perceptual data were consistent with kinematic tongue movement direction in most of the cases.Conclusions: Although the immediate response can be interpreted as indicative of the subject's attempts to move the tongue toward the opening to compensate for air loss, the findings following a sustained perturbation indicate that with time, other physiological adjustments (such as respiratory adjustments, for example) may help reestablish the requirements of a pressure-regulating system.

MICHELS SYNDROME IN A BRAZILIAN GIRL BORN TO CONSANGUINEOUS PARENTS

We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing loss. This combination of anomalies appears to constitute the Michels syndrome. (C) 1995 Wiley-Liss, Inc.

Oral clefts and vitamin supplementation

Objectives: the evidence linking low levels of folic acid and orofacial clefting (OFC) is presently equivocal, There is stronger evidence for the role of folic acid supplementation in protection against the occurrence and recurrence of neural tube defects. The present investigation tested the hypotheses that cleft lip, cleft palate, or both are inversely associated with maternal intake of dietary and supplemental vitamins during the periconceptional period and first 4 months of pregnancy in a Brazilian population.Design: A population-based, case-control study of cleft lip with or without cleft palate (CL(P)) and isolated cleft palate (CP) in a Brazilian population. in structured interviews, case histories were taken from the mothers of a consecutive sample of 450 infants born with nonsyndromic OFC,Results: Mothers who had children with CL(P) were less likely to have been supplemented during the periconceptional period. The statistical significance of the difference in prevalence of the use of supplements between mothers of patients and of controls was greater for the CL(P) group: p < .05 for CP and p < .001 for CL(P). Multivariate analysis confirmed this finding of a protective effect for both types of orofacial cleft,Conclusions: the use of vitamin supplements in the first 4 months of pregnancy was suggestive of a protective effect against the occurrence of CP and CL(P) in this population, the significance of an association between multivitamin supplementation and OFC and the possible role of gene/environment interaction are discussed.

Oral paracoccidioidomycosis: a study of 36 South American patients

Paracoccidioidomycosis (South American blastomycosis) is an uncommon, progressive systemic mycosis, virtually only seen in persons who have visited Latin America. Reports of oral lesions are extremely rare in the English-language literature. Thirty-six adults with oral lesions as the first sign of paracoccidioidomycosis are described; this appears to be the largest series in the dental literature. All had chronic proliferative mulberry-like ulcerated oral lesions; the diagnosis was confirmed histologically. The gingiva or alveolar process was the typical site, but lesions were also seen particularly on the palate and lip. Most of the patients proved to have detectable pulmonary involvement. Patients with lesions in the oropharynx, tongue, or floor of mouth all had confirmed pulmonary lesions.

Oral-Facial-Digital Syndrome Type 1: Oral Features in 12 Patients Submitted to Clinical and Radiographic Examination

Objective: To evaluate the oral features in individuals with oral-facial-digital syndrome type 1 (OFD 1), previously diagnosed by the Genetic Sector of the Hospital of Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP).Design: Twelve patients with OFD 1 were examined clinically and radiographically; their medical files were also evaluated.Results: Associated oral malformations were observed in all patients (100%). The most frequent findings were tongue hamartomas, multiple buccal frena, asymmetric lips, asymmetric tongue, and bilateral maxillary gingival swelling. Interestingly, atrophy of the maxillary midline frenum was also observed in all the individuals examined.Conclusions: Several extra and intraoral alterations were observed in patients with OFD 1. The authors suggest the inclusion of atrophy of the maxillary midline frenum as a commonly found characteristic of OFD 1.

Enamel Defects in Maxillary Central Incisors of Infants With Unilateral Cleft Lip

Objective: To evaluate the presence of enamel alterations in deciduous maxillary central incisors of infants with unilateral cleft lip and alveolar ridge, with or without cleft palate, and to compare the occurrence and location of these alterations between the central incisor adjacent to the cleft and the contralateral incisor.Design: Intraoral clinical examination was performed after tooth cleaning and drying by a single examiner with the aid of a dental mirror, dental probe, and artificial light, with the child positioned on a dental chair. The defects were recorded in a standardized manner according to the criteria of the Modified Developmental Defects of Enamel Index.Setting: Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) at Bauru, São Paulo, Brazil.Patients: One hundred one infants were evaluated. All were white, of both genders, aged 12 to 36 months and had at least two thirds of the crowns of maxillary incisors erupted.Results: Demarcated opacity was the most common defect at both cleft and noncleft sides, followed by diffuse opacity. The occurrence of hypoplasia at the cleft side was 11.8%. Most defects affected less than one third of the crown.Conclusion: The occurrence of enamel defects in deciduous maxillary central incisors of patients with unilateral cleft lip was 42.6%, mainly affecting the cleft side as to both number and severity.

Total Obturation of Velopharynx for Treatment of Velopharyngeal Hypodynamism: Case Report

A child with microdeletion at 22q11.21 was referred to a craniofacial center due to hypernasality, unintelligible speech, and bifid uvula. Velopharyngeal dysfunction remained after surgical repair of submucous cleft palate and speech therapy. A prosthetic-behavioral treatment approach involving total obturation of the velopharynx was successfully implemented for management of velopharyngeal hypodynamism.